Fryns J P, Buttiens M, van den Berghe H
Centre for Human Genetics, University of Leuven.
J Genet Hum. 1988 Jan;36(1-2):123-8.
In the present paper we report two pairs of slightly to moderately mentally retarded brothers with Marfanoid habitus and similar craniofacial changes. They had a long and narrow face, small mandible, high-arched palate and hypernasal voice, as previously reported by Lujan et al. (1984) in 4 mentally retarded males of a large kindred. The present data suggest the existence of a specific type of X-linked mental retardation with Marfanoid habitus.
在本文中,我们报告了两对患有类马凡氏体型且有相似颅面改变的轻度至中度智力发育迟缓的兄弟。他们脸长且窄,下颌小,腭弓高,鼻音重,正如卢扬等人(1984年)之前在一个大家族的4名智力发育迟缓男性中所报道的那样。目前的数据表明存在一种伴有类马凡氏体型的特定类型的X连锁智力发育迟缓。